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Zellweger syndrome

Disease Export to PDF
Name:
Zellweger syndrome
Description:
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
ORPHAcode:
912
Synonyms:
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
XREF(s):
Orphanet
OMIM
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MeSH
ICD-10
Analyte(s):
PEX11B
PEX2
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX19
PEX26
PEX3
PEX5
PEX6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14